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rs397514601

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514601(G;T)
Make rs397514601(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position77115423
GeneCAPN5
is asnp
is mentioned by
dbSNPrs397514601
ebirs397514601
HLIrs397514601
Exacrs397514601
Varsomers397514601
Maprs397514601
PheGenIrs397514601
hapmaprs397514601
1000 genomesrs397514601
hgdprs397514601
ensemblrs397514601
gopubmedrs397514601
geneviewrs397514601
scholarrs397514601
googlers397514601
pharmgkbrs397514601
gwascentralrs397514601
openSNPrs397514601
23andMers397514601
23andMe allrs397514601
SNP Nexus

SNPshotrs397514601
SNPdbers397514601
MSV3drs397514601
GWAS Ctlgrs397514601
Max Magnitude0
ClinVar
Risk rs397514601(T;T)
Alt rs397514601(T;T)
Reference rs397514601(G;G)
Significance Pathogenic
Disease Vitreoretinopathy
Variation info
Gene CAPN5
CLNDBN Vitreoretinopathy, neovascular inflammatory
Reversed 0
HGVS NC_000011.9:g.76826469G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033027.2,